UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112093693_112095870del | CA913190226 | SDHD | c.314+4682_314+6859del (n.314+4682_314+6859del) n.319+4682_319+6859del c.145+4682_145+6859del | ClinVar |
| 11 | g.112094804_112094970delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA | CA2000553729 | SDHD | c.*54-1_*219delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.314+5793_314+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA (n.314+5793_314+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA) c.315-1_480delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.198-1_363delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.319+5793_319+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.*13-1_*178delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.170-1_*77delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.308-1_*77delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.359-1_524delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.145+5793_145+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.453-1_618delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.404-1_569delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA | |
| 11 | g.112094805_112094970del | CA645509538 | SDHD | c.*54_*219del (n.*54_*219del) c.314+5794_314+5959del (n.314+5794_314+5959del) c.315_480del (p.Trp105CysfsTer8) c.198_363del (p.Trp66CysfsTer8) n.319+5794_319+5959del c.*13_*178del (n.*13_*178del) c.170_*77del (n.[c.170_*77del;Trp57SerfsTer30]) c.308_*77del (n.[c.308_*77del;Gly103AlafsTer30]) c.359_524del c.145+5794_145+5959del n.453_618del n.404_569del | ClinVar dbSNP |
| 11 | g.112094842del | CA645369585 | SDHD | c.*91del (n.*91del) c.314+5831del (n.314+5831del) c.352del (p.Asp118MetfsTer17) c.235del (p.Asp79MetfsTer17) n.319+5831del c.*50del (n.*50del) c.207del (p.Met70CysfsTer?) c.345del (p.Met116CysfsTer?) c.396del c.145+5831del n.490del n.441del | ClinVar dbSNP |
| 11 | g.112094842G>A | CA382618916 | SDHD | c.*91G>A (n.*91G>A) c.314+5831G>A (n.314+5831G>A) c.352G>A (p.Asp118Asn) c.235G>A (p.Asp79Asn) n.319+5831G>A c.*50G>A (n.*50G>A) c.207G>A (p.Gly69=) c.345G>A (p.Gly115=) c.396G>A c.145+5831G>A n.490G>A n.441G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094842G>C | CA382618918 | SDHD | c.*91G>C (n.*91G>C) c.314+5831G>C (n.314+5831G>C) c.352G>C (p.Asp118His) c.235G>C (p.Asp79His) n.319+5831G>C c.*50G>C (n.*50G>C) c.207G>C (p.Gly69=) c.345G>C (p.Gly115=) c.396G>C c.145+5831G>C n.490G>C n.441G>C | dbSNP |
| 11 | g.112094842G= | CA2000553875 | SDHD | c.*91G= (n.*91G=) c.314+5831G= (n.314+5831G=) c.352G= (p.Asp118=) c.235G= (p.Asp79=) n.319+5831G= c.*50G= (n.*50G=) c.207G= (p.Gly69=) c.345G= (p.Gly115=) c.396G= c.145+5831G= n.490G= n.441G= | |
| 11 | g.112094842G>T | CA382618921 | SDHD | c.*91G>T (n.*91G>T) c.314+5831G>T (n.314+5831G>T) c.352G>T (p.Asp118Tyr) c.235G>T (p.Asp79Tyr) n.319+5831G>T c.*50G>T (n.*50G>T) c.207G>T (p.Gly69=) c.345G>T (p.Gly115=) c.396G>T c.145+5831G>T n.490G>T n.441G>T | |
| 11 | g.112094842_112094843delinsAT | CA2740090851 | SDHD | c.*91_*92delinsAT (n.*91_*92delinsAT) c.314+5831_314+5832delinsAT (n.314+5831_314+5832delinsAT) c.352_353delinsAT (p.Asp118Ile) c.235_236delinsAT (p.Asp79Ile) n.319+5831_319+5832delinsAT c.*50_*51delinsAT (n.*50_*51delinsAT) c.207_208delinsAT (p.Met70Leu) c.345_346delinsAT (p.Met116Leu) c.396_397delinsAT c.145+5831_145+5832delinsAT n.490_491delinsAT n.441_442delinsAT | ClinVar |
| 11 | g.112094843A= | CA2000553881 | SDHD | c.*92A= (n.*92A=) c.314+5832A= (n.314+5832A=) c.353A= (p.Asp118=) c.236A= (p.Asp79=) n.319+5832A= c.*51A= (n.*51A=) c.208A= (p.Met70=) c.346A= (p.Met116=) c.397A= c.145+5832A= n.491A= n.442A= | |
| 11 | g.112094843A>C | CA382618931 | SDHD | c.*92A>C (n.*92A>C) c.314+5832A>C (n.314+5832A>C) c.353A>C (p.Asp118Ala) c.236A>C (p.Asp79Ala) n.319+5832A>C c.*51A>C (n.*51A>C) c.208A>C (p.Met70Leu) c.346A>C (p.Met116Leu) c.397A>C c.145+5832A>C n.491A>C n.442A>C | ClinVar gnomAD v4 |
| 11 | g.112094843A>G | CA071271 | SDHD | c.*92A>G (n.*92A>G) c.314+5832A>G (n.314+5832A>G) c.353A>G (p.Asp118Gly) c.236A>G (p.Asp79Gly) n.319+5832A>G c.*51A>G (n.*51A>G) c.208A>G (p.Met70Val) c.346A>G (p.Met116Val) c.397A>G c.145+5832A>G n.491A>G n.442A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112094843A>T | CA382618929 | SDHD | c.*92A>T (n.*92A>T) c.314+5832A>T (n.314+5832A>T) c.353A>T (p.Asp118Val) c.236A>T (p.Asp79Val) n.319+5832A>T c.*51A>T (n.*51A>T) c.208A>T (p.Met70Leu) c.346A>T (p.Met116Leu) c.397A>T c.145+5832A>T n.491A>T n.442A>T | |
| 11 | g.112094844T>A | CA382618932 | SDHD | c.*93T>A (n.*93T>A) c.314+5833T>A (n.314+5833T>A) c.354T>A (p.Asp118Glu) c.237T>A (p.Asp79Glu) n.319+5833T>A c.*52T>A (n.*52T>A) c.209T>A (p.Met70Lys) c.347T>A (p.Met116Lys) c.398T>A c.145+5833T>A n.492T>A n.443T>A | |
| 11 | g.112094844T>C | CA228555645 | SDHD | c.*93T>C (n.*93T>C) c.314+5833T>C (n.314+5833T>C) c.354T>C (p.Asp118=) c.237T>C (p.Asp79=) n.319+5833T>C c.*52T>C (n.*52T>C) c.209T>C (p.Met70Thr) c.347T>C (p.Met116Thr) c.398T>C c.145+5833T>C n.492T>C n.443T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094844T>G | CA382618935 | SDHD | c.*93T>G (n.*93T>G) c.314+5833T>G (n.314+5833T>G) c.354T>G (p.Asp118Glu) c.237T>G (p.Asp79Glu) n.319+5833T>G c.*52T>G (n.*52T>G) c.209T>G (p.Met70Arg) c.347T>G (p.Met116Arg) c.398T>G c.145+5833T>G n.492T>G n.443T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.112094844T= | CA2000553890 | SDHD | c.*93T= (n.*93T=) c.314+5833T= (n.314+5833T=) c.354T= (p.Asp118=) c.237T= (p.Asp79=) n.319+5833T= c.*52T= (n.*52T=) c.209T= (p.Met70=) c.347T= (p.Met116=) c.398T= c.145+5833T= n.492T= n.443T= | |
| 11 | g.112094845G>A | CA228555656 | SDHD | c.*94G>A (n.*94G>A) c.314+5834G>A (n.314+5834G>A) c.355G>A (p.Ala119Thr) c.238G>A (p.Ala80Thr) n.319+5834G>A c.*53G>A (n.*53G>A) c.210G>A (p.Met70Ile) c.348G>A (p.Met116Ile) c.399G>A c.145+5834G>A n.493G>A n.444G>A | dbSNP |
| 11 | g.112094845G>C | CA382618939 | SDHD | c.*94G>C (n.*94G>C) c.314+5834G>C (n.314+5834G>C) c.355G>C (p.Ala119Pro) c.238G>C (p.Ala80Pro) n.319+5834G>C c.*53G>C (n.*53G>C) c.210G>C (p.Met70Ile) c.348G>C (p.Met116Ile) c.399G>C c.145+5834G>C n.493G>C n.444G>C | gnomAD v4 |
| 11 | g.112094845G= | CA2000553894 | SDHD | c.*94G= (n.*94G=) c.314+5834G= (n.314+5834G=) c.355G= (p.Ala119=) c.238G= (p.Ala80=) n.319+5834G= c.*53G= (n.*53G=) c.210G= (p.Met70=) c.348G= (p.Met116=) c.399G= c.145+5834G= n.493G= n.444G= | |
| 11 | g.112094845G>T | CA382618942 | SDHD | c.*94G>T (n.*94G>T) c.314+5834G>T (n.314+5834G>T) c.355G>T (p.Ala119Ser) c.238G>T (p.Ala80Ser) n.319+5834G>T c.*53G>T (n.*53G>T) c.210G>T (p.Met70Ile) c.348G>T (p.Met116Ile) c.399G>T c.145+5834G>T n.493G>T n.444G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094846C>A | CA382618944 | SDHD | c.*95C>A (n.*95C>A) c.314+5835C>A (n.314+5835C>A) c.356C>A (p.Ala119Asp) c.239C>A (p.Ala80Asp) n.319+5835C>A c.*54C>A (n.*54C>A) c.211C>A (p.Pro71Thr) c.349C>A (p.Pro117Thr) c.400C>A c.145+5835C>A n.494C>A n.445C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094846C= | CA2000553901 | SDHD | c.*95C= (n.*95C=) c.314+5835C= (n.314+5835C=) c.356C= (p.Ala119=) c.239C= (p.Ala80=) n.319+5835C= c.*54C= (n.*54C=) c.211C= (p.Pro71=) c.349C= (p.Pro117=) c.400C= c.145+5835C= n.494C= n.445C= | |
| 11 | g.112094846C>G | CA382618947 | SDHD | c.*95C>G (n.*95C>G) c.314+5835C>G (n.314+5835C>G) c.356C>G (p.Ala119Gly) c.239C>G (p.Ala80Gly) n.319+5835C>G c.*54C>G (n.*54C>G) c.211C>G (p.Pro71Ala) c.349C>G (p.Pro117Ala) c.400C>G c.145+5835C>G n.494C>G n.445C>G | |
| 11 | g.112094846C>T | CA071275 | SDHD | c.*95C>T (n.*95C>T) c.314+5835C>T (n.314+5835C>T) c.356C>T (p.Ala119Val) c.239C>T (p.Ala80Val) n.319+5835C>T c.*54C>T (n.*54C>T) c.211C>T (p.Pro71Ser) c.349C>T (p.Pro117Ser) c.400C>T c.145+5835C>T n.494C>T n.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.112094847C>A | CA382618949 | SDHD | c.*96C>A (n.*96C>A) c.314+5836C>A (n.314+5836C>A) c.357C>A (p.Ala119=) c.240C>A (p.Ala80=) n.319+5836C>A c.*55C>A (n.*55C>A) c.212C>A (p.Pro71His) c.350C>A (p.Pro117His) c.401C>A c.145+5836C>A n.495C>A n.446C>A | |
| 11 | g.112094847C>G | CA382618951 | SDHD | c.*96C>G (n.*96C>G) c.314+5836C>G (n.314+5836C>G) c.357C>G (p.Ala119=) c.240C>G (p.Ala80=) n.319+5836C>G c.*55C>G (n.*55C>G) c.212C>G (p.Pro71Arg) c.350C>G (p.Pro117Arg) c.401C>G c.145+5836C>G n.495C>G n.446C>G | |
| 11 | g.112094847C>T | CA382618953 | SDHD | c.*96C>T (n.*96C>T) c.314+5836C>T (n.314+5836C>T) c.357C>T (p.Ala119=) c.240C>T (p.Ala80=) n.319+5836C>T c.*55C>T (n.*55C>T) c.212C>T (p.Pro71Leu) c.350C>T (p.Pro117Leu) c.401C>T c.145+5836C>T n.495C>T n.446C>T | ClinVar dbSNP |
| 11 | g.112094848T>A | CA382618958 | SDHD | c.*97T>A (n.*97T>A) c.314+5837T>A (n.314+5837T>A) c.358T>A (p.Leu120Met) c.241T>A (p.Leu81Met) n.319+5837T>A c.*56T>A (n.*56T>A) c.213T>A (p.Pro71=) c.351T>A (p.Pro117=) c.402T>A c.145+5837T>A n.496T>A n.447T>A | |
| 11 | g.112094848T>C | CA476790943 | SDHD | c.*97T>C (n.*97T>C) c.314+5837T>C (n.314+5837T>C) c.358T>C (p.Leu120=) c.241T>C (p.Leu81=) n.319+5837T>C c.*56T>C (n.*56T>C) c.213T>C (p.Pro71=) c.351T>C (p.Pro117=) c.402T>C c.145+5837T>C n.496T>C n.447T>C | |
| 11 | g.112094848T>G | CA382618955 | SDHD | c.*97T>G (n.*97T>G) c.314+5837T>G (n.314+5837T>G) c.358T>G (p.Leu120Val) c.241T>G (p.Leu81Val) n.319+5837T>G c.*56T>G (n.*56T>G) c.213T>G (p.Pro71=) c.351T>G (p.Pro117=) c.402T>G c.145+5837T>G n.496T>G n.447T>G | |
| 11 | g.112094849T>A | CA382618961 | SDHD | c.*98T>A (n.*98T>A) c.314+5838T>A (n.314+5838T>A) c.359T>A (p.Leu120Ter) c.242T>A (p.Leu81Ter) n.319+5838T>A c.*57T>A (n.*57T>A) c.214T>A (p.Cys72Ser) c.352T>A (p.Cys118Ser) c.403T>A c.145+5838T>A n.497T>A n.448T>A | |
| 11 | g.112094849T>C | CA228555658 | SDHD | c.*98T>C (n.*98T>C) c.314+5838T>C (n.314+5838T>C) c.359T>C (p.Leu120Ser) c.242T>C (p.Leu81Ser) n.319+5838T>C c.*57T>C (n.*57T>C) c.214T>C (p.Cys72Arg) c.352T>C (p.Cys118Arg) c.403T>C c.145+5838T>C n.497T>C n.448T>C | dbSNP COSMIC |
| 11 | g.112094849T>G | CA382618964 | SDHD | c.*98T>G (n.*98T>G) c.314+5838T>G (n.314+5838T>G) c.359T>G (p.Leu120Trp) c.242T>G (p.Leu81Trp) n.319+5838T>G c.*57T>G (n.*57T>G) c.214T>G (p.Cys72Gly) c.352T>G (p.Cys118Gly) c.403T>G c.145+5838T>G n.497T>G n.448T>G | |
| 11 | g.112094849T= | CA2000553910 | SDHD | c.*98T= (n.*98T=) c.314+5838T= (n.314+5838T=) c.359T= (p.Leu120=) c.242T= (p.Leu81=) n.319+5838T= c.*57T= (n.*57T=) c.214T= (p.Cys72=) c.352T= (p.Cys118=) c.403T= c.145+5838T= n.497T= n.448T= | |
| 11 | g.112094850G>A | CA382618967 | SDHD | c.*99G>A (n.*99G>A) c.314+5839G>A (n.314+5839G>A) c.360G>A (p.Leu120=) c.243G>A (p.Leu81=) n.319+5839G>A c.*58G>A (n.*58G>A) c.215G>A (p.Cys72Tyr) c.353G>A (p.Cys118Tyr) c.404G>A c.145+5839G>A n.498G>A n.449G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.112094850G>C | CA382618968 | SDHD | c.*99G>C (n.*99G>C) c.314+5839G>C (n.314+5839G>C) c.360G>C (p.Leu120Phe) c.243G>C (p.Leu81Phe) n.319+5839G>C c.*58G>C (n.*58G>C) c.215G>C (p.Cys72Ser) c.353G>C (p.Cys118Ser) c.404G>C c.145+5839G>C n.498G>C n.449G>C | |
| 11 | g.112094850G= | CA2000553913 | SDHD | c.*99G= (n.*99G=) c.314+5839G= (n.314+5839G=) c.360G= (p.Leu120=) c.243G= (p.Leu81=) n.319+5839G= c.*58G= (n.*58G=) c.215G= (p.Cys72=) c.353G= (p.Cys118=) c.404G= c.145+5839G= n.498G= n.449G= | |
| 11 | g.112094850G>T | CA382618970 | SDHD | c.*99G>T (n.*99G>T) c.314+5839G>T (n.314+5839G>T) c.360G>T (p.Leu120Phe) c.243G>T (p.Leu81Phe) n.319+5839G>T c.*58G>T (n.*58G>T) c.215G>T (p.Cys72Phe) c.353G>T (p.Cys118Phe) c.404G>T c.145+5839G>T n.498G>T n.449G>T | |
| 11 | g.112094851C>A | CA382618976 | SDHD | c.*100C>A (n.*100C>A) c.314+5840C>A (n.314+5840C>A) c.361C>A (p.Gln121Lys) c.244C>A (p.Gln82Lys) n.319+5840C>A c.*59C>A (n.*59C>A) c.216C>A (p.Cys72Ter) c.354C>A (p.Cys118Ter) c.405C>A c.145+5840C>A n.499C>A n.450C>A | gnomAD v4 |
| 11 | g.112094851C= | CA2000553919 | SDHD | c.*100C= (n.*100C=) c.314+5840C= (n.314+5840C=) c.361C= (p.Gln121=) c.244C= (p.Gln82=) n.319+5840C= c.*59C= (n.*59C=) c.216C= (p.Cys72=) c.354C= (p.Cys118=) c.405C= c.145+5840C= n.499C= n.450C= | |
| 11 | g.112094851C>G | CA382618975 | SDHD | c.*100C>G (n.*100C>G) c.314+5840C>G (n.314+5840C>G) c.361C>G (p.Gln121Glu) c.244C>G (p.Gln82Glu) n.319+5840C>G c.*59C>G (n.*59C>G) c.216C>G (p.Cys72Trp) c.354C>G (p.Cys118Trp) c.405C>G c.145+5840C>G n.499C>G n.450C>G | |
| 11 | g.112094851C>T | CA10582872 | SDHD | c.*100C>T (n.*100C>T) c.314+5840C>T (n.314+5840C>T) c.361C>T (p.Gln121Ter) c.244C>T (p.Gln82Ter) n.319+5840C>T c.*59C>T (n.*59C>T) c.216C>T (p.Cys72=) c.354C>T (p.Cys118=) c.405C>T c.145+5840C>T n.499C>T n.450C>T | ClinVar dbSNP |
| 11 | g.112094852A>C | CA382618980 | SDHD | c.*101A>C (n.*101A>C) c.314+5841A>C (n.314+5841A>C) c.362A>C (p.Gln121Pro) c.245A>C (p.Gln82Pro) n.319+5841A>C c.*60A>C (n.*60A>C) c.217A>C (p.Arg73=) c.355A>C (p.Arg119=) c.406A>C c.145+5841A>C n.500A>C n.451A>C | |
| 11 | g.112094852A>G | CA382618982 | SDHD | c.*101A>G (n.*101A>G) c.314+5841A>G (n.314+5841A>G) c.362A>G (p.Gln121Arg) c.245A>G (p.Gln82Arg) n.319+5841A>G c.*60A>G (n.*60A>G) c.217A>G (p.Arg73Gly) c.355A>G (p.Arg119Gly) c.406A>G c.145+5841A>G n.500A>G n.451A>G | gnomAD v4 |
| 11 | g.112094852A>T | CA382618985 | SDHD | c.*101A>T (n.*101A>T) c.314+5841A>T (n.314+5841A>T) c.362A>T (p.Gln121Leu) c.245A>T (p.Gln82Leu) n.319+5841A>T c.*60A>T (n.*60A>T) c.217A>T (p.Arg73Ter) c.355A>T (p.Arg119Ter) c.406A>T c.145+5841A>T n.500A>T n.451A>T | |
| 11 | g.112094853G>A | CA382618986 | SDHD | c.*102G>A (n.*102G>A) c.314+5842G>A (n.314+5842G>A) c.363G>A (p.Gln121=) c.246G>A (p.Gln82=) n.319+5842G>A c.*61G>A (n.*61G>A) c.218G>A (p.Arg73Lys) c.356G>A (p.Arg119Lys) c.407G>A c.145+5842G>A n.501G>A n.452G>A | ClinVar dbSNP |
| 11 | g.112094853G>C | CA382618989 | SDHD | c.*102G>C (n.*102G>C) c.314+5842G>C (n.314+5842G>C) c.363G>C (p.Gln121His) c.246G>C (p.Gln82His) n.319+5842G>C c.*61G>C (n.*61G>C) c.218G>C (p.Arg73Thr) c.356G>C (p.Arg119Thr) c.407G>C c.145+5842G>C n.501G>C n.452G>C | |
| 11 | g.112094853G>T | CA382618991 | SDHD | c.*102G>T (n.*102G>T) c.314+5842G>T (n.314+5842G>T) c.363G>T (p.Gln121His) c.246G>T (p.Gln82His) n.319+5842G>T c.*61G>T (n.*61G>T) c.218G>T (p.Arg73Ile) c.356G>T (p.Arg119Ile) c.407G>T c.145+5842G>T n.501G>T n.452G>T | |
| 11 | g.112094854A>C | CA382618992 | SDHD | c.*103A>C (n.*103A>C) c.314+5843A>C (n.314+5843A>C) c.364A>C (p.Lys122Gln) c.247A>C (p.Lys83Gln) n.319+5843A>C c.*62A>C (n.*62A>C) c.219A>C (p.Arg73Ser) c.357A>C (p.Arg119Ser) c.408A>C c.145+5843A>C n.502A>C n.453A>C |